Neurogenetic (including neurometabolic and neurodevelopmental) and seizure disorders represent a significant proportion of those conditions causing IDD in children. Included here are well-defined single gene defect diseases (e.g., Rett, Angelman & Sanfilippo Syndromes, Niemann-Pick Type C disease, neurofibromatosis type I) and also disorders whose etiology is not yet fully defined (e.g., infantile spasms). Although most of these conditions are themselves rare, as a group they represent an enormous health burden on affected children, their families and society. Significant efforts are under way by RFK IDDRC investigators and clinicians to better understand the pathogenic and genetic mechanisms underlying these disorders and to develop new and innovative treatments for affected children.
RFK IDDRC investigator laboratories and clinics at Einstein and its affiliated hospitals are making contributions related to neurogenetic and seizure disorders and to the basic neurobiology and genetics underlying these conditions:
Neuronal Stem Cells
Frenette, Paul (Medicine)
Dobrenis, Kostantin (Neuroscience)
Neurofibromatosis
Hebert, Jean (Neurology)
Kalpana, Gankam (Genetics)
Levy, Adam (Pediatrics)
Marion, Robert (Pediatrics)
Zukin, Suzanne (Neuroscience)
Related clinics:
CHAM Clinical Services-Genetics
Niemann-Pick Type C, Sanfilippo, Batten and Other Lysosomal Disorders
Carroll, Reed (Neuroscience)
Dobrenis, Kostantin (Neuroscience)
Levy, Paul (Pediatrics)
Marion, Robert (Pediatrics)
Walkley, Steven (Neuroscience)
Related clinics:
CHAM Clinical Services-Genetics
Neuron-Neuron and Neuron-Glia Interactions
Bennett, Michael (Neuroscience)
Bukauskas, Feliksas (Neuroscience)
Dobrenis, Kostantin (Neuroscience)
Faber, Donald (Neuroscience)
Francesconi, Anna (Neuroscience)
Hiroi, Noburu (Psychiatry)
Spray, David (Neuroscience)
Verselis, Vytautas (Neuroscience)
Zukin, R. Suzanne (Neuroscience)
Synaptic Mechanisms of Learning and Memory
Akabas, Myles (Physiology & Biophysics)
Bennett, Michael (Neuroscience)
Bukauskas, Feliksas (Neuroscience)
Carroll, Reed (Neuroscience)
Castillo, Pablo (Neuroscience)
Faber, Donald (Neuroscience)
Francesconi, Anna (Neuroscience)
Pereda, Alberto (Neuroscience)
Zukin, R. Suzanne (Neuroscience)
Normal and Abnormal Brain Development
Abrahams, Brett (Genetics)
Emmons, Scott (Genetics)
Hall, David (Neuroscience)
Hebert, Jean (Neurology)
Jordan, Bryen (Neuroscience)
Kaprelian, Zaven (Pathology)
Mehler, Mark (Neurology)
Molero, Aldrin (Neurology)
Morrow, Bernice (Genetics)
Walkley, Steven (Neuroscience)
Rett, Angelman, Williams, Kallmann and Fragile X Syndromes
Buelow, Hannes (Genetics)
Djukic, Aleksandra (Neurology)
Francesconi, Anna (Neuroscience)
Galanopoulou, Aristea (Neurology)
Greally, John (Genetics)
Gulinello, Maria (Neuroscience)
Hiroi, Noburu (Psychiatry)
Levy, Adam (Pediatrics)
Levy, Paul (Pediatrics)
Marion, Robert (Pediatrics)
Samanich, Joy (Pediatrics)
Shulman, Lisa (Pediatrics)
Walkley, Steven (Neuroscience)
Zukin, R. Suzanne (Neuroscience)
Related clinics:CERC Specialized Service Programs
The Children's Hospital at Montefiore (CHAM)
CHAM Clinical Services-The Williams Syndrome Center
CHAM Clnical Services-Rett Syndrome Center